Variant report

Variant	nsv870585
Chromosome Location	chr1:74737597-74769267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:74622416..74625063-chr1:74764779..74767346,2	K562	blood:

Extended variants
information (count: 1137 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1137 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1412827	chr1:74737597-74737598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530924428	chr1:74737660-74737661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138551556	chr1:74737680-74737681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552136720	chr1:74737738-74737739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570421404	chr1:74737817-74737818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537788138	chr1:74737830-74737831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114243702	chr1:74737870-74737871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567939917	chr1:74737884-74737885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185744154	chr1:74737902-74737903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372703343	chr1:74737907-74737908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542018143	chr1:74737971-74737972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554257997	chr1:74738014-74738015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374913004	chr1:74738021-74738022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78177135	chr1:74738069-74738070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552247063	chr1:74738117-74738118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562258511	chr1:74738152-74738153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139751483	chr1:74738215-74738216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs45499499	chr1:74738216-74738217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs143944883	chr1:74738244-74738245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549382958	chr1:74738287-74738288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375520943	chr1:74738335-74738336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375688250	chr1:74738373-74738374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529504187	chr1:74738459-74738460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541530282	chr1:74738460-74738461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181634237	chr1:74738475-74738476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111621726	chr1:74738476-74738477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527249251	chr1:74738525-74738526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148002894	chr1:74738537-74738538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570159398	chr1:74738548-74738549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531480247	chr1:74738591-74738592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs45598336	chr1:74738607-74738608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs5775231	chr1:74738684-74738685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397706665	chr1:74738686-74738687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74548713	chr1:74738687-74738688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75502423	chr1:74738692-74738693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567880568	chr1:74738724-74738725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535662325	chr1:74738799-74738800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568247167	chr1:74738801-74738802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs509953	chr1:74738822-74738823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566174689	chr1:74738848-74738849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141696032	chr1:74738913-74738914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558182763	chr1:74738930-74738931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150507905	chr1:74738960-74738961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544114710	chr1:74738965-74738966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139832790	chr1:74739000-74739001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574102623	chr1:74739067-74739068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541619606	chr1:74739072-74739073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565777377	chr1:74739090-74739091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559734821	chr1:74739094-74739095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183979087	chr1:74739115-74739116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74671400-74751800	Weak transcription	Ovary	ovary
2	chr1:74717000-74751800	Weak transcription	Aorta	Aorta
3	chr1:74719600-74753800	Weak transcription	Right Ventricle	heart
4	chr1:74724200-74746400	Weak transcription	Left Ventricle	heart
5	chr1:74731800-74743800	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:74735200-74742200	Weak transcription	Fetal Heart	heart
7	chr1:74735800-74751400	Weak transcription	Psoas Muscle	Psoas
8	chr1:74736600-74740400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:74736800-74751600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:74742200-74743200	Enhancers	Fetal Heart	heart
11	chr1:74743200-74746400	Weak transcription	Fetal Heart	heart
12	chr1:74746400-74746800	Genic enhancers	Left Ventricle	heart
13	chr1:74746400-74747400	Enhancers	Fetal Heart	heart
14	chr1:74746800-74748400	Strong transcription	Left Ventricle	heart
15	chr1:74747400-74747800	Weak transcription	Fetal Heart	heart
16	chr1:74747600-74752000	Weak transcription	Gastric	stomach
17	chr1:74747800-74748000	Enhancers	Fetal Heart	heart
18	chr1:74748000-74769200	Weak transcription	Fetal Heart	heart
19	chr1:74748400-74751800	Weak transcription	Left Ventricle	heart
20	chr1:74750800-74751200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:74751800-74752200	ZNF genes & repeats	Aorta	Aorta
22	chr1:74751800-74752600	ZNF genes & repeats	Left Ventricle	heart
23	chr1:74751800-74752600	ZNF genes & repeats	Ovary	ovary
24	chr1:74752000-74752200	ZNF genes & repeats	Gastric	stomach
25	chr1:74752600-74753200	Weak transcription	Left Ventricle	heart
26	chr1:74764000-74771000	Weak transcription	Left Ventricle	heart
27	chr1:74766000-74771000	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:74768000-74768800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:74768000-74769200	Weak transcription	Adipose Nuclei	Adipose
30	chr1:74768200-74768600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:74769200-74769400	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr1:74769200-74773200	Strong transcription	Fetal Heart	heart

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